HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8075794_8075819del , CM000679.2:g.8075794_8075819del | GRCh38 |
NC_000017.10:g.7979112_7979137del , CM000679.1:g.7979112_7979137del | GRCh37 |
NC_000017.9:g.7919837_7919862del | NCBI36 |
NG_007099.1:g.16891_16916del | |
NG_007099.2:g.16904_16929del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1533-97_1533-72del MANE Select | ENSP00000497784.1:n.1533-97_1533-72del | |
ENST00000649809.1:c.597-97_597-72del | ENSP00000496845.1:n.597-97_597-72del | |
ENST00000319144.4:c.1533-97_1533-72del | ENSP00000315167.4:n.1533-97_1533-72del | |
ENST00000577351.5:n.479+362_479+387del | ||
NM_001139.2:c.1533-97_1533-72del | NP_001130.1:n.1533-97_1533-72del | |
NM_001139.3:c.1533-97_1533-72del MANE Select | NP_001130.1:n.1533-97_1533-72del |